A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057506



Internal ID18800037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75502374..75542099hg38UCSC Ensembl
Innerchr16:75536272..75575997hg19UCSC Ensembl
Innerchr16:74093773..74133498hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3839726
hg1939726
hg1839726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3020n100
Supporting Variantsnssv3559606, nssv3559601, nssv3559603, nssv3559602, nssv3559605, nssv3559604
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057506
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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